小儿卵睾性性发育疾病的诊治(附9例报告)  

Diagnosis and Treatment of Ovotesticular Disorders of Sex Development in Children

作　　者：陆良生[1] 阮双岁[1] 毕允力[1] 陆毅群[1] 王翔[1] 葛琳娟[1] 肖现民[1] 

机构地区：[1]复旦大学附属儿科医院外科,上海201102

出　　处：《中华男科学杂志》2009年第7期628-631,共4页National Journal of Andrology

摘　　要：目的:分析探讨小儿卵睾性性发育疾病的诊断及治疗。方法:回顾分析我院泌尿外科收治的卵睾性性发育疾病患儿共9例,分析其临床表现、诊断及治疗方法。结果:9例卵睾性性发育疾病患儿,初诊年龄为9个月至9岁,社会性别男性7例,女性2例,核型46,XX4例,46,XX/46,XY2例,46,XY1例,其余2例无染色体资料。临床多以出生后外生殖器畸形就诊,男性表现为会阴型或阴茎阴囊型尿道下裂,伴或不伴隐睾,女性有阴蒂肥大,外阴畸形。所有患儿均经性腺活检明确诊断,通过手术切除与抚养性别不符的性腺,矫正外生殖器畸形。结论:卵睾性性发育疾病最终性别的选择主要根据外生殖器的发育情况,结合性腺分化、染色体核型和内生殖器的结构以及家属的意愿综合考虑决定。腹腔镜技术在卵睾性性发育疾病的盆腔性腺探查活检和切除及睾丸下降固定等方面与传统手术相比具有优势。Objective： To investigate the diagnosis and treatment of ovotesticular disorders of sex development （DSD） in children. Methods ： We reviewed the clinical data of 9 cases of ovotesticular DSD admitted in our department from 1988 to 2007. Results ： The patients ranged in age from 9 months to 9 years, 7 raised as males and 2 as females. As for the karyotype, 4 eases were 46, XX, 2 were 46, XX/46, XY, 1 was 46, XY, and the other 2 had no karyotype data. All of them presented with obscure external genitalia： perineal or penoscrotal hypospadias with or without cryptorehidism in males and hypertrophy of the clitoris in females. They were diagnosed with ovotesticular DSD by gonad biopsy and underwent genitoplasty. Conclusion ： The gender assignment of the ovotesticular DSD patient was chiefly based on the development of external genitalia, dominant gonad, karyotype and the parent＇s will. Laparoscopic technology is recommended in gonad biopsy and orehiopexy during the treatment of ovotestieular DSD.

关 键 词：卵睾性性发育疾病 诊断 治疗 腹腔镜 

分 类 号：R726.9[医药卫生—儿科]